Familial disorders of parathyroid glands

The molecular mechanisms underlying familial parathyroid diseases continue to be elucidated. The mechanisms of familial parathyroid diseases are better understood than many sporadic parathyroid diseases. Familial parathyroid disease is associated with multiple endocrine neoplasia type 1 which is associated with MEN1 mutation, multiple endocrine neoplasia type 2A caused by RET mutation, and multiple endocrine neoplasia type 4 is caused with CDKN1B mutation. Sporadic parathyroid tumours are identified with mutations of MEN1 but generally not of RET. CDKN1B mutations are also identified in sporadic forms of primary hyperparathyroidism, although very rarely. Calcium sensing receptor gene mutations are involved in familial hyperparathyroidism and hypoparathyroidism, but are generally not identified in sporadic parathyroid tumours. However, the HPRT2 (CDC73) gene, which is mutated in hyperparathyroidism jaw-tumour syndrome and a subset of cases of familial isolated hyperparathyroidism, is frequently mutated in sporadic parathyroid carcinomas. Germline activating GCM2 mutations were recently found associated with a subset of familial isolated hyperparathyroidism. Parafibromin, a protein encoded by HPRT2, has been used in the diagnostic setting. The understanding and pathogenesis of parathyroid disease continues to evolve.     

Trend Toward Individualization of the Endocrine and Exocrine Portions of the Giant Anteater Pancreas (Myrmecophaga Tridactyla,Xenarthra)

Considering the physiological importance of the pancreas as an endocrine and exocrine organ, this study described the characteristics of the gross and microscopic morphology of this organ using 16 Myrmecophaga tridactyla individuals. The pancreas was located in the left antimere of the body, was pale in colour and exhibited an elongated shape with a central body and lobulated surface. It was positioned in the abdomen, following the curvatura ventriculi major of the stomach, and was attached to the initial portion of the duodenum. The corpus pancreatis was elongated and showed a caudal curvature of 45°. The pancreas exhibited a facies dorsalis (related to the spleen and stomach) and a facies ventralis (related to the renal capsule and intestine). Macroscopically, a craniodorsal, medial, and caudoventral regions were identified, in addition to the left lobe. Structurally, the organ exhibited two distinct parts: the first had exocrine characteristics, consisting of acini and ducts; the second, which was the endocrine portion, consisted of the pancreatic islets, which were located in the medial, caudoventral and left lobe regions. Ultrastructural analysis identified secretory vesicles containing zymogen granules, mitochondria, Golgi apparatus and rough endoplasmic reticulum in pancreatic centroacinar cells. Morphological data on the anatomy of members of the Xenarthra have revealed important peculiarities of several organs and systems, adding great biological value to the representatives of this group. In addition, these studies significantly contribute not only to knowledge of the biology, taxonomy and, consequently, preservation of these animals but also to the discovery of new experimental models. Anat Rec, 300:1104–1113, 2017. © 2016 Wiley Periodicals, Inc.     

Clinical spectrum of MEN2A in a large family caused by the infrequent RET mutation Cys609Phe

Mutations in RET proto‐oncogene cause multiple endocrine neoplasia 2A (MEN2A). Mutations in codons 609 and 611 are not frequent. We identified two MEN2A families with the Cys609Phe RET mutation, which turned out to be the same family. This mutation has been described a couple of times with no clinical details. We have characterized the clinical phenotype of this large kindred. A 54‐year‐old woman, with a medullary thyroid carcinoma (MTC), and a 33‐year‐old woman, who was operated on for an adrenal pheochromocytoma, were the index cases. 35 relatives were studied. Sixteen turned out to be carriers and 12 of them have been operated on. This family showed eight patients with C‐cell hyperplasia, six patients affected by MTC and two showing pheochromocytoma. A papillary thyroid carcinoma was also found, together with the MTC, in one of the carriers. The phenotype in this large kindred is clearly of MEN2A. In carriers presenting the Cys609Phe mutation, the timing of the presentation of the syndrome is highly unpredictable. Therefore, a strict follow up of MTC must be carried out because of risk, and pheochromocytoma should not be ignored. These results reinforce the scarce data observed on this particular mutation.     

党参等10味中药对断乳幼鼠生长发育指标的对比研究

目的：研究党参等10味中药对断乳幼鼠生长发育及内分泌各项指标的影响。方法：330只断乳幼鼠随机分组,给予普通鼠粮和添加受试中药的试验鼠粮,实验期31天。结果：雌鼠中党参组幼鼠身高和体重优于对照组（P〈0．05和P〈0．01）,山药、枸杞组幼鼠身高优于对照组（P〈0．01和P〈0．05）;雄鼠中党参、当归、枸杞组幼鼠身高和体重优于对照组（P〈0．05）;各组小鼠肾上腺重量无明显差异（P〉0．05）。     

Development of neuropeptide Y-related peptides in the digestive organs during the larval stage of Japanese flounder, Paralichthys olivaceus

cDNAs encoding three neuropeptide Y (NPY)-related peptides were identified from the Japanese flounder. One peptide corresponds to NPY, and its mRNA was expressed in the brain and retina. The second peptide corresponds to peptide YY (PYY), and its mRNA was expressed in the brain but surprisingly not in the digestive organs. This suggests that PYY lacks function as a digestive hormone in flounder. The third peptide corresponds to peptide Y (PY), and its mRNA occupied the brain and the endocrine cells of the intestine and the pancreatic accessory islets, but not of the principal islet. This suggests that PY has a dual role as a neuropeptide and a digestive hormone. In flounder larvae, PY cells appear in the intestinal epithelia at 3 days posthatching (dph), when larvae start feeding, in contrast to the endocrine pancreas at 30 dph. Therefore, the endocrine system of PY, which probably regulates the pancreatic enzyme secretion, develops synchronously with the start of feeding in the intestine but about 1 month later in the endocrine pancreas in flounder.     

免疫检查点抑制剂相关内分泌副反应的研究进展

免疫检查点抑制剂是一种新兴的肿瘤免疫治疗方法,通过靶向细胞毒性T淋巴细胞相关抗原(cytotoxic T lymphocyte-associated protein-4, CTLA-4)、程序性死亡受体-1(programmed death-1, PD-1)和程序性死亡配体-1(programmed death ligand-1, PD-L1)达到抗肿瘤的效果,极大延长了晚期肿瘤患者的生存时间。然而,免疫检查点抑制剂在激活免疫系统抗肿瘤的同时,也可能会对患者的多个器官系统造成损伤,内分泌副反应是最为常见的副反应之一。由于免疫检查点抑制剂越来越多地应用于临床,其引起的免疫相关内分泌副反应如果未被及时识别,可能会对患者造成生命危险。本文就目前研究中发现的免疫相关内分泌副反应的发病率及其可能的发病机制进行综述,同时,探讨免疫相关内分泌副反应的临床管理策略,为临床医生诊疗工作提供帮助。     

舌象与常见病证临床检测指标关系的研究进展

舌象是中医临床诊断的重要依据,病证结合诊断是中医临床面临的主要问题,研究中、西医诊断指标之间的关系是未来中医临床发展的关键环节。以中医舌诊为切入点,综述传统诊法中的舌象与常见病证临床检测指标及现代化舌象图像量化指标与常见病证临床检测指标间的关系。通过分析认为,舌象量化指标与西医临床检测指标的关系研究尚不充分,运用计算机技术提取、分析舌象量化指标,辅以人工智能技术,从微观角度探讨中医舌诊对临床疾病诊断的意义,有利于构建舌诊与证候、疾病、客观指标之间的内在联系。     

Use of GC × GC/TOF‐MS and LC/TOF‐MS for metabolomic analysis of Hyalella azteca chronically exposed to atrazine and its primary metabolite,desethylatrazine

Atrazine is one of the most commonly detected contaminants in the U.S. Little information is available on one of atrazine's metabolites, desethylatrazine (DEA). Two‐dimensional gas chromatography and liquid chromatography coupled with time of flight‐ mass spectrometry were used to examine metabolite profiles of Hyalella azteca chronically exposed to 30 µg/L atrazine and DEA. The majority of identified metabolites were by‐products of β‐oxidation of fatty acids suggesting possible disruption in energy metabolism. Eicosanoids increased in exposed females suggesting possible perturbations in neuropeptide hormonal systems. Overall, this research demonstrates the feasibility of utilizing metabolomic profiling of invertebrate species exposed to environmental contaminants as a way to determine mechanisms of toxicity. Copyright © 2010 John Wiley & Sons, Ltd.